Canonical Allele Identifier: CA732365502

Gene: COQ8A

Linked Data

• dbSNP Id: rs1453487075
• gnomAD v3: 1-226983812-AGT-A
• gnomAD v4: 1-226983812-AGT-A
• MyVariant Identifiers: chr1:g.227171514_227171515del (hg19) ; chr1:g.226983813_226983814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983816_226983817del , CM000663.2:g.226983816_226983817del	GRCh38
NC_000001.10:g.227171517_227171518del , CM000663.1:g.227171517_227171518del	GRCh37
NC_000001.9:g.225238140_225238141del	NCBI36
NG_012825.1:g.48580_48581del
NG_012825.2:g.91281_91282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1218_1219del MANE Select	ENSP00000355739.3:p.Cys406Ter
ENST00000366779.6:c.*5945_*5946del	ENSP00000355741.2:n.*5945_*5946del
ENST00000676884.1:c.*6067_*6068del	ENSP00000503200.1:n.*6067_*6068del
ENST00000366777.3:c.1218_1219del	ENSP00000355739.3:p.Cys406Ter
ENST00000366778.5:c.1062_1063del	ENSP00000355740.1:p.Cys354Ter
ENST00000366779.5:c.1218_1219del	ENSP00000355741.1:p.Cys406Ter
ENST00000478406.5:n.1841_1842del
ENST00000479852.1:n.166_167del
ENST00000485462.5:n.608_609del
NM_020247.4:c.1218_1219del	NP_064632.2:p.Cys406Ter
XM_005273201.1:c.1218_1219del	XP_005273258.1:p.Cys406Ter
XM_011544238.1:c.1218_1219del	XP_011542540.1:p.Cys406Ter
XM_011544239.1:c.1218_1219del	XP_011542541.1:p.Cys406Ter
XM_011544240.1:c.1218_1219del	XP_011542542.1:p.Cys406Ter
XM_011544241.1:c.1218_1219del	XP_011542543.1:p.Cys406Ter
XM_011544239.2:c.1218_1219del	XP_011542541.1:p.Cys406Ter
XM_011544241.2:c.1218_1219del	XP_011542543.1:p.Cys406Ter
XM_017001852.1:c.1218_1219del	XP_016857341.1:p.Cys406Ter
XM_024448517.1:c.1218_1219del	XP_024304285.1:p.Cys406Ter
XM_024448518.1:c.1218_1219del	XP_024304286.1:p.Cys406Ter
NM_020247.5:c.1218_1219del MANE Select	NP_064632.2:p.Cys406Ter